ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.648-1278A>C

gnomAD frequency: 0.00425  dbSNP: rs181901044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838346 SCV000980212 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Natera, Inc. RCV001825699 SCV002079591 benign Walker-Warburg congenital muscular dystrophy 2019-10-21 no assertion criteria provided clinical testing

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